Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome

Bernard Soulier Syndrome (BSS) is a severe bleeding disorder with moderate to severe thrombocytopenia, giant platelets, and platelet dysfunction, caused by biallelic mutations in GP1BA, GP1BB, or GP9 genes. We generated induced pluripotent stem cells (iPSC) from a BSS patient with a novel heterozyg...

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Bibliographic Details

Published in:	Haematologica
Main Authors:	Larissa Lordier, Christian A. Di Buduo, Alexandre Kauskot, Nathalie Balayn, Cécile Lavenu-Bombled, Francesco Baschieri, Valérie Proulle, Cecilia P. Marin Oyarzun, Francesca Careddu, Ida Biunno, Tudor Manoliu, Philippe Rameau, Isabelle Plo, Nicolas Papadopoulos, Stefan Constantinescu, William Vainchenker, Guillaume Nam Nguyen, Paola Ballerini, Remi Favier, Alessandra Balduini, Hana Raslova
Format:	Article
Language:	English
Published:	Ferrata Storti Foundation 2025-03-01
Online Access:	https://haematologica.org/article/view/11965